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NM_000059.4(BRCA2):c.8332-3C>G AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 10, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000810256.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.8332-3C>G]

NM_000059.4(BRCA2):c.8332-3C>G

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.8332-3C>G
HGVS:
  • NC_000013.11:g.32370399C>G
  • NG_012772.3:g.59920C>G
  • NM_000059.4:c.8332-3C>GMANE SELECT
  • LRG_293t1:c.8332-3C>G
  • LRG_293:g.59920C>G
  • NC_000013.10:g.32944536C>G
  • NM_000059.3:c.8332-3C>G
Links:
dbSNP: rs587782093
NCBI 1000 Genomes Browser:
rs587782093
Molecular consequence:
  • NM_000059.4:c.8332-3C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000950449Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 10, 2024) 		germlineclinical testing

PubMed (11)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.

Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y.

Breast Cancer Res Treat. 2019 Nov;178(1):231-237. doi: 10.1007/s10549-019-05379-6. Epub 2019 Jul 31.

PubMed [citation]
PMID:
31368036

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]
PMID:
17576681
PMCID:
PMC1934990
See all PubMed Citations (11)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000950449.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)

Description

This sequence change falls in intron 18 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with ovarian cancer (PMID: 31368036). ClinVar contains an entry for this variant (Variation ID: 141899). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 19, but is expected to preserve the integrity of the reading-frame (Invitae). Other variant(s) that result in the loss of exon 19 have been determined to be pathogenic (PMID: 12442275, 15889636, 16030099, 23108138, 23233716, 23479189, 25777348). This suggests that this variant may also be clinically significant and likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024